"GeneDx"[submitter] AND "RAX2"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59081	GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3	ABHD17A, ADAT3 +362 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063246, LOC130063247 +810 more	Copy number gain	See cases	GPathogenic
Select item 60070	GRCh38/hg38 19p13.3(chr19:2926238-4051635)x1	APBA3, ATCAY +121 more	Copy number loss	See cases	GPathogenic
Select item 145080	GRCh38/hg38 19p13.3(chr19:3338024-4833139)x1	LOC121852974, LOC125371451 +193 more	Copy number loss	See cases	GPathogenic
Select item 208124	NM_001319074.4(RAX2):c.465_475del (p.Ala156fs)	RAX2 (A156fs)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 889122	NM_001319074.4(RAX2):c.413C>T (p.Pro138Leu)	RAX2 (P138L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 956201	NM_001319074.4(RAX2):c.373G>A (p.Gly125Arg)	RAX2 (G125R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 96230	NM_001319074.4(RAX2):c.217-8C>T	RAX2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 1196274	NM_001319074.4(RAX2):c.216+72C>T	RAX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 426594	NM_001319074.4(RAX2):c.175G>A (p.Glu59Lys)	RAX2 (E59K)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 195392	NM_001319074.4(RAX2):c.45T>G (p.Gly15=)	RAX2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign